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  • 1
    ISSN: 1432-0533
    Keywords: Key words Hereditary neuropathy with liability to ; pressure palsy ; Charcot-Marie-Tooth disease type 1 ; Peripheral myelin protein 22 ; Archival nerve biopsies ; Quantitative polymerase chain reaction
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Chromosomal imbalance of the peripheral myelin protein-22 gene (PMP22) is known to be the most frequent genetic abnormality in Charcot-Marie-Tooth disease type 1 (CMT1) and hereditary neuropathy with liability to pressure palsy (HNPP). We applied a new quantitative PCR method, the direct-double-differential PCR (dddPCR), to the gene dosage determination of PMP22. The method allows the quantification of the PMP22 gene copy number independently from DNA fragmentation, even in highly degraded DNA from up to 12-year-old sural nerve biopsy samples. Chromosomal imbalance of the PMP22 gene, which had been detected by examination of four microsatellites located directly adjacent to the PMP22 gene, between the CMT1A-repetition (CMT1A-REP) elements was reliably confirmed by the dddPCR. Using this method we unexpectedly identified two cases with PMP22 imbalance, although morphologically the neuropathies were of a neuronal or axonal type and not of a demyelinating type as usual. One sural nerve biopsy was from a 58-year-old male diabetes mellitus patient with a disproportionately severe polyneuropathy showing a heterozygous duplication of PMP22. The second biopsy exhibiting a heterozygous deletion of PMP22 was from a 58-year-old female patient with a more axonal than demyelinating type of neuropathy without typical tomaculous changes seemingly altered by exogenous, possibly traumatic factors other than diabetes mellitus. Thus, the dddPCR provides a fast and reliable diagnostic tool for the screening and identification of CMT1A and HNPP cases, which is fast and may be essential even when nerve biopsies show morphologically atypical changes.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    New York : Wiley-Blackwell
    Die Makromolekulare Chemie 3 (1949), S. 247-250 
    ISSN: 0025-116X
    Keywords: Chemistry ; Polymer and Materials Science
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology , Physics
    Notes: Cellobiose wird als Glykolsäure-glykosid nach der Azid-methode mit Protein kondensiert. Ferner werden aus Lacto-bionsäure und Proteinen nach der Azid-methode Lacto-bionyl-proteine synthetisiert.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Chichester [u.a.] : Wiley-Blackwell
    Journal of Raman Spectroscopy 17 (1986), S. 107-111 
    ISSN: 0377-0486
    Keywords: Chemistry ; Analytical Chemistry and Spectroscopy
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology , Physics
    Notes: A theory is presented which describes coherent anti-Stokes resonance Raman scattering via continuum electronic states of diatomic molecules. It is applied to the dissociative continuum of the bounded B(3Π0+u) state and the continuum of the repulsive 1Π1u state of the iodine molecule. The theory allows numerical calculations of continuum resonance CARS spectra.
    Additional Material: 2 Ill.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Chichester [u.a.] : Wiley-Blackwell
    Journal of Raman Spectroscopy 17 (1986), S. 143-150 
    ISSN: 0377-0486
    Keywords: Chemistry ; Analytical Chemistry and Spectroscopy
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology , Physics
    Notes: The construction of a cw CARS spectrometer is described, consisting of a single mode argon ion ring laser, an intra-cavity sample cell and a tunable dye laser. The argon laser was first stabilized to an iodine absorption line. From an evaluation of the CARS spectrum of the Q-branch of the rovibrational band of nitrogen, the vibration-rotation interaction constant is obtained as αe = 0.0173850 ± 0.0000035 cm-1, in agreement with Bensten's result from the linear Raman spectrum of the total band. Finally, the stabilization of the argon laser to a hyperfine component in the Doppler-free polarization spectrum of iodine is described.
    Additional Material: 7 Ill.
    Type of Medium: Electronic Resource
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